##fileformat=VCFv4.1 ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##FILTER= ##annotator=MARS ##UnifiedGenotyper="analysis_type=UnifiedGenotyper input_file=[D:\Illumina\MiSeqAnalysis\200417_M04358_0133_000000000-CV8CW\Data\Intensities\BaseCalls\Alignment\20165-01-01_S19.bam] read_buffer_size=null phone_home=NO_ET gatk_key=null read_filter=[] intervals=[D:\Illumina\MiSeqAnalysis\200417_M04358_0133_000000000-CV8CW\Data\Intensities\BaseCalls\Alignment\Segment_intervals_M2.0.picard] excludeIntervals=null interval_set_rule=UNION interval_merging=ALL reference_sequence=C:\Illumina\MiSeq Reporter\Genomes\Homo_sapiens\UCSC\hg19\Sequence\WholeGenomeFASTA\genome.fa nonDeterministicRandomSeed=false downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=5000 baq=OFF baqGapOpenPenalty=40.0 performanceLog=null useOriginalQualities=false BQSR=null quantize_quals=-1 defaultBaseQualities=-1 validation_strictness=SILENT unsafe=null num_threads=1 num_cpu_threads=null num_io_threads=null num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false logging_level=OFF log_to_file=null help=false genotype_likelihoods_model=BOTH p_nonref_model=EXACT heterozygosity=0.0010 pcr_error_rate=1.0E-4 genotyping_mode=DISCOVERY output_mode=EMIT_ALL_SITES standard_min_confidence_threshold_for_calling=1.0 standard_min_confidence_threshold_for_emitting=30.0 noSLOD=false annotateNDA=false alleles=(RodBinding name= source=UNBOUND) min_base_quality_score=17 max_deletion_fraction=0.05 max_alternate_alleles=3 min_indel_count_for_genotyping=5 min_indel_fraction_per_sample=0.25 indel_heterozygosity=1.25E-4 indelGapContinuationPenalty=10 indelGapOpenPenalty=45 indelHaplotypeSize=80 noBandedIndel=false indelDebug=false ignoreSNPAlleles=false includeGVCFData=true dbsnp=(RodBinding name= source=UNBOUND) comp=[] out=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub NO_HEADER=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub debug_file=null metrics_file=null annotation=[] excludeAnnotation=[] filter_mismatching_base_and_quals=false" ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##reference=file://C:\Illumina\MiSeq Reporter\Genomes\Homo_sapiens\UCSC\hg19\Sequence\WholeGenomeFASTA\genome.fa ##gvcftools_version="0.12.1" ##gvcftools_cmdline="C:\Illumina\MiSeq Reporter\Workflows\EnrichmentWorker\gatk_to_gvcf.exe --no-default-filters --min-qd 0.0000 --min-gqx 10.0000 --min-mq 0.0000" ##source=GATK 1.6 #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT 20165-01-01 chr1 1853615 . T TCTGA 43048.90 PASS DP=655;FS=0.000;HRun=0;HaplotypeScore=378.4853;MQ=60;MQ0=0;QD=65.72;SB=-21472.25 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:31,604:655:99:43049,1881,0:60:99:0.951 chr1 1854109 rs2803348 A G 6367.78 PASS BaseQRankSum=4.683;DP=578;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=13.7144;MQ=60;MQ0=0;MQRankSum=0.499;QD=11.02;ReadPosRankSum=1.014;SB=-4308.25 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:308,269:578:99:6368,0,7679:60:99:0.466 chr1 1861582 rs2803295 C T 11449.97 PASS BaseQRankSum=4.963;DP=923;Dels=0.00;FS=9.590;HRun=0;HaplotypeScore=43.4575;MQ=60;MQ0=0;MQRankSum=1.107;QD=12.41;ReadPosRankSum=1.317;SB=-7457.88 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:447,475:923:99:11450,0,10796:60:99:0.515 chr1 1873453 rs2748981 G A 3777.41 PASS BaseQRankSum=2.837;DP=348;Dels=0.00;FS=1.831;HRun=0;HaplotypeScore=8.4407;MQ=60;MQ0=0;MQRankSum=0.196;QD=10.85;ReadPosRankSum=0.572;SB=-1832.91 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:195,153:348:99:3777,0,4672:60:99:0.440 chr1 1873514 rs2803326 A G 6065.38 PASS BaseQRankSum=3.459;DP=564;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=27.3531;MQ=60;MQ0=0;MQRankSum=-1.282;QD=10.75;ReadPosRankSum=-0.270;SB=-4264.38 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:304,260:564:99:6065,0,7288:60:99:0.461 chr1 1873525 rs2803327 T C 5943.92 PASS BaseQRankSum=2.660;DP=571;Dels=0.00;FS=1.334;HRun=0;HaplotypeScore=34.4799;MQ=60;MQ0=0;MQRankSum=0.851;QD=10.41;ReadPosRankSum=0.869;SB=-4218.39 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:311,260:571:99:5944,0,7445:60:99:0.455 chr1 1875858 rs2803336 C G 4565.49 PASS BaseQRankSum=1.668;DP=555;Dels=0.00;FS=8.033;HRun=0;HaplotypeScore=17.9529;MQ=60;MQ0=0;MQRankSum=2.889;QD=8.23;ReadPosRankSum=1.706;SB=-2690.89 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:349,204:554:99:4565,0,8408:60:99:0.369 chr1 1875859 rs2803337 A G 4385.89 PASS BaseQRankSum=2.936;DP=550;Dels=0.00;FS=6.058;HRun=0;HaplotypeScore=17.9529;MQ=60;MQ0=0;MQRankSum=2.017;QD=7.97;ReadPosRankSum=1.764;SB=-2717.41 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:348,202:550:99:4386,0,8350:60:99:0.367 chr1 1884735 . CT C 378.71 R8 BaseQRankSum=-0.048;DP=182;FS=2.869;HRun=16;HaplotypeScore=720.0460;MQ=60;MQ0=0;MQRankSum=1.463;QD=2.08;ReadPosRankSum=1.005;SB=-181.26 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:125,32:182:99:418,0,1825:60:99:0.204 chr1 1885055 rs2474455 C T 3844.75 PASS BaseQRankSum=0.938;DP=411;Dels=0.00;FS=0.757;HRun=0;HaplotypeScore=8.8860;MQ=60;MQ0=0;MQRankSum=0.401;QD=9.35;ReadPosRankSum=0.144;SB=-2527.17;TI=NM_001080484;GI=KIAA1751;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:246,165:411:99:3845,0,5626:60:99:0.401 chr1 1886222 rs2803287 T G 6798.68 PASS BaseQRankSum=5.790;DP=612;Dels=0.00;FS=0.293;HRun=0;HaplotypeScore=27.5713;MQ=60;MQ0=0;MQRankSum=0.661;QD=11.11;ReadPosRankSum=0.427;SB=-4394.96;TI=NM_001080484;GI=KIAA1751;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:318,293:612:99:6799,0,7258:60:99:0.480 chr1 1886385 rs2803286 T C 8760.13 PASS BaseQRankSum=4.693;DP=779;Dels=0.00;FS=3.711;HRun=0;HaplotypeScore=22.2803;MQ=60;MQ0=0;MQRankSum=0.821;QD=11.25;ReadPosRankSum=-0.809;SB=-6171.89;TI=NM_001080484;GI=KIAA1751;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:400,378:779:99:8760,0,9608:60:99:0.486 chr1 1886501 rs2748976 C A 1686.78 PASS BaseQRankSum=1.807;DP=673;Dels=0.00;FS=28.233;HRun=0;HaplotypeScore=34.0081;MQ=59;MQ0=5;MQRankSum=-0.322;QD=2.51;ReadPosRankSum=3.747;SB=-996.35;TI=NM_001080484;GI=KIAA1751;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:529,144:673:99:1717,0,12130:59:99:0.214 chr1 1886519 rs2748975 C A 2922.07 PASS BaseQRankSum=1.028;DP=641;Dels=0.00;FS=17.757;HRun=0;HaplotypeScore=46.7892;MQ=59;MQ0=5;MQRankSum=1.282;QD=4.56;ReadPosRankSum=7.023;SB=-2031.03;TI=NM_001080484;GI=KIAA1751;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:453,188:641:99:2952,0,10677:59:99:0.293 chr1 1887019 rs28548017 A G 5512.11 PASS BaseQRankSum=0.823;DP=575;Dels=0.00;FS=0.637;HRun=2;HaplotypeScore=39.8142;MQ=60;MQ0=0;MQRankSum=3.407;QD=9.59;ReadPosRankSum=0.861;SB=-3344.84;TI=NM_001080484;GI=KIAA1751;FC=Missense_X763Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:349,225:575:99:5512,0,8531:60:99:0.392 chr1 1900186 rs35269416 T C 2922.07 PASS BaseQRankSum=2.938;DP=332;Dels=0.00;FS=10.617;HRun=0;HaplotypeScore=18.9636;MQ=60;MQ0=0;MQRankSum=0.661;QD=8.80;ReadPosRankSum=0.340;SB=-1607.75;TI=NM_001080484;GI=KIAA1751;FC=Missense_K378R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:205,127:332:99:2952,0,4784:60:99:0.383 chr1 1900232 rs16824588 T C 2089.97 PASS BaseQRankSum=2.815;DP=262;Dels=0.00;FS=5.693;HRun=0;HaplotypeScore=11.2065;MQ=60;MQ0=0;MQRankSum=-0.221;QD=7.98;ReadPosRankSum=-1.594;SB=-787.01;TI=NM_001080484;GI=KIAA1751;FC=Missense_I363V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:172,90:262:99:2120,0,4523:60:99:0.344 chr1 1918488 rs4350140 A G 5399.44 PASS BaseQRankSum=0.071;DP=449;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.3091;MQ=60;MQ0=0;MQRankSum=0.363;QD=12.03;ReadPosRankSum=1.285;SB=-3335.25;TI=NM_001080484;GI=KIAA1751;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:216,232:449:99:5399,0,5210:60:99:0.518 chr1 38030696 rs6619 T C 5293.70 PASS BaseQRankSum=3.368;DP=446;Dels=0.00;FS=0.342;HRun=1;HaplotypeScore=11.2012;MQ=60;MQ0=0;MQRankSum=0.588;QD=11.87;ReadPosRankSum=-1.018;SB=-3632.10;TI=NM_003462;GI=DNALI1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:224,222:446:99:5294,0,5028:60:99:0.498 chr1 78578177 rs6666954 T C 2961.87 PASS BaseQRankSum=-1.050;DP=397;Dels=0.00;FS=4.007;HRun=0;HaplotypeScore=13.5768;MQ=60;MQ0=0;MQRankSum=0.393;QD=7.46;ReadPosRankSum=1.113;SB=-2017.22;TI=NM_017655;GI=GIPC2;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:257,138:397:99:2992,0,6301:60:99:0.349 chr1 118644430 rs10754367 A G 10939.35 PASS DP=398;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.0839;MQ=60;MQ0=0;QD=27.49;SB=-7705.07;TI=NM_206996;GI=SPAG17;FC=Synonymous_N189N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,398:398:99:10939,777,0:60:99:1.000 chr1 156495177 rs41267369 A G 3926.66 PASS BaseQRankSum=-0.657;DP=324;Dels=0.00;FS=0.419;HRun=0;HaplotypeScore=27.8479;MQ=60;MQ0=0;MQRankSum=-0.380;QD=12.12;ReadPosRankSum=0.620;SB=-2176.36 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:157,164:324:99:3927,0,3702:60:99:0.511 chr1 156495639 rs77821780 C T 3120.09 PASS BaseQRankSum=0.096;DP=309;Dels=0.00;FS=0.431;HRun=0;HaplotypeScore=17.5032;MQ=59;MQ0=0;MQRankSum=-0.370;QD=10.10;ReadPosRankSum=-1.189;SB=-1665.37;TI=NM_178229;GI=IQGAP3;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:182,125:309:99:3150,0,4447:59:99:0.407 chr1 156496188 rs6427315 A G 15204.81 PASS BaseQRankSum=1.685;DP=521;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=32.3333;MQ=60;MQ0=0;MQRankSum=1.093;QD=29.18;ReadPosRankSum=-0.779;SB=-9567.96;TI=NM_178229;GI=IQGAP3;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,519:521:99:15205,1099,0:60:99:0.998 chr1 156499969 rs1171566 T C 8170.23 PASS BaseQRankSum=5.355;DP=735;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=36.8885;MQ=60;MQ0=0;MQRankSum=0.308;QD=11.12;ReadPosRankSum=-0.979;SB=-5963.49;TI=NM_178229;GI=IQGAP3;FC=Synonymous_L1444L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:368,366:735:99:8170,0,8591:60:99:0.499 chr1 156500096 . T C 3368.15 PASS BaseQRankSum=2.126;DP=283;Dels=0.00;FS=0.468;HRun=1;HaplotypeScore=15.6936;MQ=60;MQ0=0;MQRankSum=1.550;QD=11.90;ReadPosRankSum=0.949;SB=-1464.55;TI=NM_178229;GI=IQGAP3;FC=Missense_K1402R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:146,136:283:99:3368,0,3890:60:99:0.482 chr1 156502870 rs4661044 C T 7588.75 PASS BaseQRankSum=5.859;DP=731;Dels=0.00;FS=1.165;HRun=0;HaplotypeScore=35.5633;MQ=60;MQ0=0;MQRankSum=-0.648;QD=10.38;ReadPosRankSum=-1.775;SB=-5393.33;TI=NM_178229;GI=IQGAP3;FC=Synonymous_T1335T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:398,332:731:99:7589,0,9295:60:99:0.455 chr1 156526387 rs11264498 C G 8701.86 PASS BaseQRankSum=1.165;DP=688;Dels=0.00;FS=1.909;HRun=0;HaplotypeScore=30.2815;MQ=60;MQ0=0;MQRankSum=1.314;QD=12.65;ReadPosRankSum=0.894;SB=-5811.34;TI=NM_178229;GI=IQGAP3;FC=Missense_V410L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:321,367:688:99:8702,0,7522:60:99:0.533 chr1 156526444 rs2488269 T C 16134.25 PASS DP=577;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=31.5153;MQ=60;MQ0=0;QD=27.96;SB=-9498.29;TI=NM_178229;GI=IQGAP3;FC=Missense_R391G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,574:577:99:16134,1153,0:60:99:1.000 chr1 156532908 rs16837492 C A 9064.06 PASS BaseQRankSum=2.417;DP=306;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.4599;MQ=60;MQ0=0;MQRankSum=-1.319;QD=29.62;ReadPosRankSum=1.423;SB=-3654.03;TI=NM_178229;GI=IQGAP3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,304:306:99:9064,653,0:60:99:0.993 chr1 156532977 rs1171547 T C 17009.32 PASS BaseQRankSum=2.403;DP=638;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=18.3416;MQ=60;MQ0=0;MQRankSum=-0.152;QD=26.66;ReadPosRankSum=-1.070;SB=-10998.24;TI=NM_178229;GI=IQGAP3;FC=Synonymous_Q249Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:2,636:638:99:17009,1198,0:60:99:0.997 chr1 156536221 rs2066377 G C 10740.85 PASS DP=388;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.9097;MQ=60;MQ0=0;QD=27.68;SB=-6439.01;TI=NM_178229;GI=IQGAP3;FC=Synonymous_P81P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,388:388:99:10741,762,0:60:99:1.000 chr1 156536251 rs947662 T C 13155.91 PASS DP=491;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=10.2122;MQ=60;MQ0=0;QD=26.79;SB=-9171.53;TI=NM_178229;GI=IQGAP3;FC=Synonymous_L71L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,491:491:99:13156,927,0:60:99:1.000 chr1 156536353 rs947663 A G 9032.24 PASS DP=310;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5353;MQ=60;MQ0=0;QD=29.14;SB=-4449.40;TI=NM_178229;GI=IQGAP3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,310:310:99:9032,650,0:60:99:1.000 chr1 156539154 rs6427319 T C 12674.56 PASS DP=491;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=22.7069;MQ=60;MQ0=0;QD=25.81;SB=-9403.04;TI=NM_178229;GI=IQGAP3;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,489:491:99:12675,888,0:60:99:1.000 chr1 159860259 rs2501320 G A 4795.08 PASS BaseQRankSum=2.582;DP=427;Dels=0.00;FS=6.449;HRun=0;HaplotypeScore=18.0588;MQ=60;MQ0=0;MQRankSum=0.524;QD=11.23;ReadPosRankSum=1.114;SB=-2158.63;TI=NM_012337;GI=CCDC19;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:237,190:427:99:4795,0,5746:60:99:0.445 chr1 245133539 rs7542813 A G 5792.11 PASS DP=216;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.8466;MQ=60;MQ0=0;QD=26.82;SB=-3465.64;TI=NM_032328,NR_026586;GI=EFCAB2,EFCAB2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,216:216:99:5792,412,0:60:99:1.000 chr1 245245378 rs10927386 T C 3550.46 PASS DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=60;MQ0=0;QD=29.34;SB=-1506.37;TI=NM_032328,NR_026586,NR_026588,NM_001143943,NR_026587;GI=EFCAB2,EFCAB2,EFCAB2,EFCAB2,EFCAB2;FC=Silent,Silent,Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,121:121:99:3550,256,0:60:99:1.000 chr1 245245402 rs10927387 C T 4665.50 PASS DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=60;MQ0=0;QD=30.10;SB=-2152.02;TI=NM_032328,NR_026586,NR_026588,NM_001143943,NR_026587;GI=EFCAB2,EFCAB2,EFCAB2,EFCAB2,EFCAB2;FC=Synonymous_P67P,Silent,Silent,Synonymous_P67P,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,155:155:99:4665,337,0:60:99:1.000 chr1 245251020 rs1047707 G T 8418.80 PASS DP=289;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4582;MQ=60;MQ0=0;QD=29.13;SB=-5454.45;TI=NM_032328,NR_026586,NR_026588,NM_001143943,NR_026587;GI=EFCAB2,EFCAB2,EFCAB2,EFCAB2,EFCAB2;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,288:289:99:8419,605,0:60:99:1.000 chr1 245251140 rs4658695 T G 4663.49 PASS DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3643;MQ=60;MQ0=0;QD=27.11;SB=-3006.61;TI=NM_032328,NR_026586,NR_026588,NM_001143943,NR_026587;GI=EFCAB2,EFCAB2,EFCAB2,EFCAB2,EFCAB2;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,172:172:99:4663,328,0:60:99:1.000 chr1 245286313 rs4658701 G A 10438.17 PASS DP=342;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.8897;MQ=60;MQ0=0;QD=30.52;SB=-6043.68;TI=NR_026586,NM_001143943,NR_026587;GI=EFCAB2,EFCAB2,EFCAB2;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,340:342:99:10438,764,0:60:99:1.000 chr2 26647277 rs7423300 T G 12187.01 PASS BaseQRankSum=1.660;DP=436;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=21.1856;MQ=60;MQ0=0;MQRankSum=0.418;QD=27.95;ReadPosRankSum=0.299;SB=-6536.67;TI=NM_145038;GI=C2orf39;FC=Synonymous_A165A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,434:436:99:12187,862,0:60:99:0.998 chr2 26667130 rs3795958 A G 10190.28 PASS DP=384;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.4491;MQ=60;MQ0=0;QD=26.54;SB=-6145.00;TI=NM_145038;GI=C2orf39;FC=Missense_K357E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,384:384:99:10190,719,0:60:99:1.000 chr2 26667615 rs61509377 T C 12862.19 PASS DP=470;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=31.4028;MQ=60;MQ0=0;QD=27.37;SB=-8710.54;TI=NM_145038;GI=C2orf39;FC=Missense_W399R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,469:470:99:12862,909,0:60:99:1.000 chr2 26671544 rs4072407 A G 12796.15 PASS DP=447;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.2383;MQ=60;MQ0=0;QD=28.63;SB=-6644.57;TI=NM_145038;GI=C2orf39;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,446:447:99:12796,915,0:60:99:1.000 chr2 26676322 rs1402962 A G 17536.98 PASS BaseQRankSum=1.709;DP=616;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=54.5635;MQ=60;MQ0=0;MQRankSum=-1.275;QD=28.47;ReadPosRankSum=1.709;SB=-10909.72;TI=NM_145038;GI=C2orf39;FC=Synonymous_E608E;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,613:616:99:17537,1264,0:60:99:0.998 chr2 68357264 . T A 13.64 LowVariantFreq;SB;LowDP BaseQRankSum=-0.948;DP=18;Dels=0.00;FS=5.653;HRun=0;HaplotypeScore=8.7531;MQ=59;MQ0=0;MQRankSum=0.000;QD=0.76;ReadPosRankSum=-2.725;SB=-7.54 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:15,3:18:43.44:43,0,419:59:14:0.167 chr2 68357266 . G GT 69.67 R8;LowDP BaseQRankSum=-1.200;DP=15;FS=0.000;HRun=14;HaplotypeScore=118.0634;MQ=58;MQ0=0;MQRankSum=-0.555;QD=4.64;ReadPosRankSum=0.660;SB=-33.43 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:7,6:15:77.43:109,0,77:58:70:0.462 chr2 68358046 . CT C 563.10 R8 BaseQRankSum=-1.616;DP=217;FS=0.000;HRun=21;HaplotypeScore=892.8789;MQ=60;MQ0=0;MQRankSum=-0.461;QD=2.59;ReadPosRankSum=-1.202;SB=-207.74;TI=NM_138458;GI=WDR92;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:120,34:217:99:602,0,929:60:99:0.221 chr2 68358341 rs62145930 T C 5054.70 PASS BaseQRankSum=2.951;DP=480;Dels=0.00;FS=7.130;HRun=0;HaplotypeScore=9.1812;MQ=60;MQ0=0;MQRankSum=0.340;QD=10.53;ReadPosRankSum=-0.753;SB=-3350.63;TI=NM_138458;GI=WDR92;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:266,213:479:99:5055,0,7001:60:99:0.445 chr2 68364478 rs13009282 T C 402.13 PASS BaseQRankSum=0.163;DP=69;Dels=0.00;FS=2.219;HRun=0;HaplotypeScore=0.9159;MQ=60;MQ0=0;MQRankSum=2.550;QD=5.83;ReadPosRankSum=-2.276;SB=-229.02;TI=NM_138458;GI=WDR92;FC=Missense_M241V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:48,21:69:99:432,0,1128:60:99:0.304 chr2 120303820 rs2579624 A T 3132.77 PASS BaseQRankSum=-0.467;DP=364;Dels=0.00;FS=2.941;HRun=0;HaplotypeScore=20.3422;MQ=60;MQ0=0;MQRankSum=0.104;QD=8.61;ReadPosRankSum=0.624;SB=-1662.12;TI=NM_001029996;GI=PCDP1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:225,139:364:99:3163,0,5252:60:99:0.382 chr2 120317621 . CTT C 518.95 LowVariantFreq;R8 BaseQRankSum=1.667;DP=142;FS=2.610;HRun=20;HaplotypeScore=466.8791;MQ=60;MQ0=0;MQRankSum=-0.206;QD=3.65;ReadPosRankSum=-0.206;SB=-146.99;TI=NM_001029996;GI=PCDP1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:75,18:142:99:558,0,1374:60:99:0.194 chr2 120366057 rs11398750 G GT 1774.72 R8 BaseQRankSum=-1.424;DP=124;FS=0.000;HRun=12;HaplotypeScore=265.2529;MQ=60;MQ0=0;MQRankSum=-1.239;QD=14.31;ReadPosRankSum=1.693;SB=-701.73;TI=NM_001029996;GI=PCDP1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:23,79:124:99:1814,0,229:60:99:0.775 chr2 120369300 rs10864986 T C 6852.79 PASS DP=243;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0324;MQ=60;MQ0=0;QD=28.20;SB=-4112.34;TI=NM_001029996;GI=PCDP1;FC=Synonymous_V145V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,243:243:99:6853,488,0:60:99:1.000 chr2 120383138 rs77292092 CATT C 7922.76 PASS BaseQRankSum=0.330;DP=280;FS=2.630;HRun=0;HaplotypeScore=163.4233;MQ=61;MQ0=0;MQRankSum=2.160;QD=28.30;ReadPosRankSum=0.340;SB=-3441.74;TI=NM_001029996;GI=PCDP1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:129,151:280:99:7923,0,6899:61:99:0.539 chr2 120388412 rs2272058 G A 13884.64 PASS DP=509;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=19.4635;MQ=60;MQ0=0;QD=27.28;SB=-8301.81;TI=NM_001029996;GI=PCDP1;FC=Missense_V351I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,509:509:99:13885,984,0:60:99:1.000 chr2 120404629 . ATT A,AT 4833.54 R8 BaseQRankSum=-1.759;DP=259;FS=1.126;HaplotypeScore=313.3865;MQ=60;MQ0=0;MQRankSum=0.141;QD=18.66;ReadPosRankSum=-0.244;SB=-1840.99;TI=NM_001029996;GI=PCDP1;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 1/2:43,53,0:259:99:4834,2987,3264,1146,0,819:60:99:0.552 chr2 120414083 rs6761357 C T 13462.75 PASS DP=465;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.2808;MQ=60;MQ0=0;QD=28.95;SB=-9141.23;TI=NM_001029996;GI=PCDP1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,465:465:99:13463,963,0:60:99:1.000 chr2 147596973 rs4411641 A G 528.37 PASS DP=21;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=25.16;SB=-356.30 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,21:21:39.13:561,39,0:60:39:1.000 chr2 219545309 rs2303565 T C 6088.20 PASS BaseQRankSum=4.484;DP=539;Dels=0.00;FS=2.229;HRun=4;HaplotypeScore=17.3004;MQ=60;MQ0=0;MQRankSum=-1.227;QD=11.30;ReadPosRankSum=-0.461;SB=-3874.47;TI=NM_015690;GI=STK36;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:266,271:539:99:6088,0,6147:60:99:0.505 chr2 219553503 rs73079060 T C 7541.43 PASS BaseQRankSum=0.063;DP=715;Dels=0.00;FS=0.554;HRun=0;HaplotypeScore=22.1335;MQ=60;MQ0=0;MQRankSum=-0.870;QD=10.55;ReadPosRankSum=-0.230;SB=-5252.48;TI=NM_015690;GI=STK36;FC=Synonymous_D488D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:377,338:715:99:7541,0,8842:60:99:0.473 chr2 219555292 rs1427444 A G 3562.00 PASS BaseQRankSum=-0.570;DP=329;Dels=0.00;FS=2.432;HRun=0;HaplotypeScore=14.6277;MQ=60;MQ0=0;MQRankSum=0.801;QD=10.83;ReadPosRankSum=1.128;SB=-1843.89;TI=NM_015690;GI=STK36;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:178,150:329:99:3562,0,4278:60:99:0.457 chr2 219557014 rs6709303 A C 2553.22 PASS BaseQRankSum=0.836;DP=214;Dels=0.00;FS=1.082;HRun=4;HaplotypeScore=6.3944;MQ=60;MQ0=0;MQRankSum=0.498;QD=11.93;ReadPosRankSum=-0.889;SB=-1397.56;TI=NM_015690;GI=STK36;FC=Missense_Q638P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:110,104:214:99:2583,0,2598:60:99:0.486 chr2 219562677 rs55633575 G A 3888.10 PASS BaseQRankSum=0.394;DP=411;Dels=0.00;FS=5.721;HRun=0;HaplotypeScore=10.7913;MQ=60;MQ0=0;MQRankSum=2.070;QD=9.46;ReadPosRankSum=2.272;SB=-2409.16;TI=NM_015690;GI=STK36;FC=Missense_V1004I;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:243,167:411:99:3888,0,5989:60:99:0.407 chr2 219563496 rs58753698 T C 6604.09 PASS BaseQRankSum=3.287;DP=526;Dels=0.00;FS=1.009;HRun=0;HaplotypeScore=27.0981;MQ=60;MQ0=0;MQRankSum=0.011;QD=12.56;ReadPosRankSum=-0.184;SB=-3807.96;TI=NM_015690;GI=STK36;FC=Synonymous_L1077L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:278,248:526:99:6604,0,7017:60:99:0.471 chr2 219563958 rs73079079 T G 5706.48 PASS BaseQRankSum=1.762;DP=656;Dels=0.00;FS=1.259;HRun=1;HaplotypeScore=18.9988;MQ=60;MQ0=0;MQRankSum=0.993;QD=8.70;ReadPosRankSum=2.210;SB=-4010.96;TI=NM_015690;GI=STK36;FC=Missense_C1231G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:394,261:656:99:5706,0,9536:60:99:0.398 chr2 219567043 rs80263269 A G 5224.96 PASS BaseQRankSum=3.231;DP=553;Dels=0.00;FS=1.006;HRun=0;HaplotypeScore=21.8878;MQ=60;MQ0=0;MQRankSum=0.574;QD=9.45;ReadPosRankSum=-1.172;SB=-3168.69;TI=NM_015690;GI=STK36;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:327,226:553:99:5225,0,7807:60:99:0.409 chr3 60898434 rs11130795 T C 492.86 LowVariantFreq BaseQRankSum=1.049;DP=227;Dels=0.00;FS=0.675;HRun=0;HaplotypeScore=3.5764;MQ=60;MQ0=0;MQRankSum=-0.938;QD=2.17;ReadPosRankSum=-1.177;SB=-353.31;TI=NM_002012,NM_001166243;GI=FHIT,FHIT;FC=Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:190,36:227:99:523,0,4322:60:99:0.159 chr3 126142496 rs13064828 T C 12824.49 PASS DP=453;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=25.5656;MQ=60;MQ0=0;QD=28.31;SB=-6298.90;TI=NM_182628;GI=CCDC37;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,450:453:99:12824,921,0:60:99:1.000 chr3 127783698 rs1044843 A T 2259.21 PASS BaseQRankSum=3.658;DP=221;Dels=0.00;FS=5.755;HRun=1;HaplotypeScore=22.8213;MQ=60;MQ0=0;MQRankSum=-1.329;QD=10.22;ReadPosRankSum=2.096;SB=-1039.45;TI=NM_013336;GI=SEC61A1;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:128,93:221:99:2289,0,2981:60:99:0.421 chr3 127799835 rs68118584 TAGAG T 6835.10 R8 BaseQRankSum=-0.545;DP=297;FS=0.432;HRun=0;HaplotypeScore=176.4017;MQ=60;MQ0=0;MQRankSum=0.040;QD=23.01;ReadPosRankSum=1.763;SB=-2966.39;TI=NM_003707;GI=RUVBL1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:168,120:297:99:6835,0,9260:60:99:0.417 chr3 127799983 rs1057220 A C 7123.61 PASS BaseQRankSum=6.587;DP=630;Dels=0.00;FS=1.263;HRun=2;HaplotypeScore=16.1845;MQ=60;MQ0=0;MQRankSum=0.267;QD=11.31;ReadPosRankSum=1.699;SB=-4770.80;TI=NM_003707;GI=RUVBL1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:326,303:629:99:7124,0,7851:60:99:0.482 chr3 127800071 rs1057156 A G 7834.73 PASS BaseQRankSum=5.743;DP=722;Dels=0.00;FS=4.877;HRun=0;HaplotypeScore=25.9591;MQ=60;MQ0=0;MQRankSum=-1.616;QD=10.85;ReadPosRankSum=0.533;SB=-4980.98;TI=NM_003707;GI=RUVBL1;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:393,328:722:99:7835,0,9742:60:99:0.455 chr3 127872506 rs11711710 C T 3006.09 PASS BaseQRankSum=2.574;DP=324;Dels=0.00;FS=1.848;HRun=2;HaplotypeScore=13.1995;MQ=60;MQ0=0;MQRankSum=-0.251;QD=9.28;ReadPosRankSum=2.275;SB=-2408.31;TI=NM_021937;GI=EEFSEC;FC=Synonymous_G52G;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:171,153:324:99:3036,0,3412:60:99:0.472 chr3 127872602 rs11719546 A G 1053.87 PASS BaseQRankSum=0.202;DP=182;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=18.0578;MQ=60;MQ0=0;MQRankSum=1.774;QD=5.79;ReadPosRankSum=-2.236;SB=-759.68;TI=NM_021937;GI=EEFSEC;FC=Synonymous_P84P;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:123,58:182:99:1084,0,2739:60:99:0.320 chr3 166960278 rs11923256 G T 7290.92 PASS DP=273;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2804;MQ=60;MQ0=0;QD=26.71;SB=-4246.65;TI=NM_001199202,NM_001199201,NM_024687;GI=ZBBX,ZBBX,ZBBX;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,273:273:99:7291,515,0:60:99:1.000 chr3 167023738 rs13096767 G C 6033.21 PASS DP=212;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5764;MQ=60;MQ0=0;QD=28.46;SB=-3009.00;TI=NM_001199202,NM_001199201,NM_024687;GI=ZBBX,ZBBX,ZBBX;FC=Unknown_444,Unknown_473,Unknown_473;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,212:212:99:6033,430,0:60:99:1.000 chr3 167034814 rs13068132 T C 1633.38 PASS DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60;MQ0=0;QD=27.22;SB=-1005.78;TI=NM_001199202,NM_001199201,NM_024687;GI=ZBBX,ZBBX,ZBBX;FC=Synonymous_L362L,Synonymous_L391L,Synonymous_L391L;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,60:60:99:1666,117,0:60:99:1.000 chr3 167051769 rs11923054 T C 4146.54 PASS DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=60;MQ0=0;QD=31.90;SB=-1294.58;TI=NM_001199202,NM_001199201,NM_024687;GI=ZBBX,ZBBX,ZBBX;FC=Missense_K149R,Missense_K178R,Missense_K178R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,130:130:99:4147,304,0:60:99:1.000 chr3 167068256 rs4619784 T A 10674.69 PASS DP=389;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0468;MQ=60;MQ0=0;QD=27.44;SB=-7265.18;TI=NM_001199202,NM_001199201,NM_024687;GI=ZBBX,ZBBX,ZBBX;FC=Missense_K131N,Missense_K160N,Missense_K160N;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,389:389:99:10675,756,0:60:99:1.000 chr3 167077691 rs4257551 T A 7584.01 PASS DP=252;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5758;MQ=60;MQ0=0;QD=30.10;SB=-3237.09;TI=NM_001199202,NM_001199201,NM_024687;GI=ZBBX,ZBBX,ZBBX;FC=Synonymous_V104V,Synonymous_V133V,Synonymous_V133V;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,252:252:99:7584,545,0:60:99:1.000 chr3 167097421 rs13073265 C T 8409.69 PASS DP=296;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.7942;MQ=60;MQ0=0;QD=28.41;SB=-4230.24;TI=NM_001199202,NM_001199201,NM_024687;GI=ZBBX,ZBBX,ZBBX;FC=Silent,Silent,Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,296:296:99:8410,602,0:60:99:1.000 chr3 169557842 rs16854445 C T 8321.67 PASS DP=276;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.0976;MQ=60;MQ0=0;QD=30.15;SB=-4841.56;TI=NM_024727;GI=LRRC31;FC=Synonymous_Q529Q;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,275:276:99:8322,605,0:60:99:1.000 chr3 169558025 rs3732451 C T 16520.50 PASS DP=598;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=21.2875;MQ=60;MQ0=0;QD=27.63;SB=-10959.81;TI=NM_024727;GI=LRRC31;FC=Synonymous_A468A;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,596:598:99:16520,1177,0:60:99:1.000 chr3 169566090 rs9290375 A G 6650.69 PASS DP=223;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0410;MQ=60;MQ0=0;QD=29.82;SB=-2599.99;TI=NM_024727;GI=LRRC31;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,223:223:99:6651,482,0:60:99:1.000 chr3 169569432 rs35923425 C G 8580.88 PASS DP=299;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0306;MQ=60;MQ0=0;QD=28.70;SB=-4150.05;TI=NM_024727;GI=LRRC31;FC=Missense_L378F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,298:299:99:8581,614,0:60:99:1.000 chr3 180332171 . T G 68.24 SB BaseQRankSum=-3.736;DP=164;Dels=0.01;FS=104.875;HRun=7;HaplotypeScore=82.2022;MQ=59;MQ0=0;MQRankSum=-0.843;QD=0.42;ReadPosRankSum=-0.322;SB=-0.01;TI=NM_181426;GI=CCDC39;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:121,39:163:98.23:98,0,2250:59:68:0.244 chr3 180379648 . C G 3891.77 PASS DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3619;MQ=60;MQ0=0;QD=29.94;SB=-1485.61;TI=NM_181426;GI=CCDC39;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,130:130:99:3892,280,0:60:99:1.000 chr3 180565309 rs6443724 T A 7732.14 PASS BaseQRankSum=1.683;DP=281;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.1001;MQ=60;MQ0=0;MQRankSum=-0.918;QD=27.52;ReadPosRankSum=1.633;SB=-4626.45 GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:1,280:281:99:7732,551,0:60:99:0.996 chr3 180565417 . GA G 603.70 LowVariantFreq;R8 BaseQRankSum=1.440;DP=320;FS=0.456;HRun=14;HaplotypeScore=841.5623;MQ=60;MQ0=0;MQRankSum=-0.690;QD=1.89;ReadPosRankSum=-0.011;SB=-258.65 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:233,58:320:99:643,0,4489:60:99:0.199 chr3 197659160 rs67877771 C G 1161.32 PASS BaseQRankSum=0.614;DP=176;Dels=0.00;FS=2.032;HRun=1;HaplotypeScore=5.3371;MQ=60;MQ0=0;MQRankSum=1.573;QD=6.60;ReadPosRankSum=-2.257;SB=-672.70;TI=NM_032263,NM_001134435;GI=IQCG,IQCG;FC=Missense_D177H,Missense_D177H;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:122,54:176:99:1191,0,2922:60:99:0.307 chr3 197665599 rs9880989 G T 4950.19 PASS BaseQRankSum=1.339;DP=413;Dels=0.00;FS=0.356;HRun=0;HaplotypeScore=13.9140;MQ=60;MQ0=0;MQRankSum=0.431;QD=11.99;ReadPosRankSum=-0.106;SB=-3430.57;TI=NM_032263,NM_001134435;GI=IQCG,IQCG;FC=Missense_A112D,Missense_A112D;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:199,213:413:99:4950,0,4906:60:99:0.517 chr4 185999543 rs6841061 G A 1745.43 PASS BaseQRankSum=1.028;DP=267;Dels=0.00;FS=3.769;HRun=3;HaplotypeScore=9.1209;MQ=60;MQ0=0;MQRankSum=-0.581;QD=6.54;ReadPosRankSum=2.564;SB=-1166.85 GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:186,80:267:99:1775,0,4576:60:99:0.301 chr5 10442068 rs1047426 C T 9768.98 PASS DP=359;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=17.1759;MQ=60;MQ0=0;QD=27.21;SB=-4873.83;TI=NM_031916;GI=ROPN1L;FC=Silent;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 1/1:0,357:357:99:9769,695,0:60:99:1.000 chr5 10442427 rs78035767 C G 6644.46 PASS BaseQRankSum=2.821;DP=622;Dels=0.00;FS=6.185;HRun=4;HaplotypeScore=30.6702;MQ=60;MQ0=0;MQRankSum=-0.724;QD=10.68;ReadPosRankSum=0.182;SB=-3228.09;TI=NM_031916;GI=ROPN1L;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:343,278:622:99:6644,0,8052:60:99:0.448 chr5 10448505 rs11957839 G C 4899.84 PASS BaseQRankSum=2.259;DP=357;Dels=0.00;FS=2.362;HRun=0;HaplotypeScore=13.7716;MQ=60;MQ0=0;MQRankSum=0.073;QD=13.73;ReadPosRankSum=0.796;SB=-2462.92;TI=NM_031916;GI=ROPN1L;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:159,198:357:99:4900,0,3715:60:99:0.555 chr5 13769257 rs12655133 T A 4121.37 PASS BaseQRankSum=0.389;DP=335;Dels=0.00;FS=16.036;HRun=3;HaplotypeScore=12.6576;MQ=60;MQ0=0;MQRankSum=-0.254;QD=12.30;ReadPosRankSum=2.203;SB=-2868.34;TI=NM_001369;GI=DNAH5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:154,179:334:99:4121,0,3942:60:99:0.538 chr5 13788886 rs10513155 C A 4436.38 PASS BaseQRankSum=1.585;DP=476;Dels=0.00;FS=0.698;HRun=2;HaplotypeScore=16.2312;MQ=60;MQ0=0;MQRankSum=-0.937;QD=9.32;ReadPosRankSum=-1.920;SB=-3181.08;TI=NM_001369;GI=DNAH5;FC=Missense_L2862F;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:278,198:476:99:4436,0,6660:60:99:0.416 chr5 13842027 . C CA 281.78 R8 BaseQRankSum=-1.335;DP=100;FS=0.000;HRun=19;HaplotypeScore=483.5337;MQ=60;MQ0=0;MQRankSum=2.284;QD=2.82;ReadPosRankSum=-1.057;SB=-112.79;TI=NM_001369;GI=DNAH5;FC=Noncoding GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:50,23:100:99:319,0,302:60:99:0.315 chr5 13850750 rs6554820 A G 4631.11 PASS BaseQRankSum=-0.018;DP=394;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.5955;MQ=60;MQ0=0;MQRankSum=-0.114;QD=11.75;ReadPosRankSum=-0.614;SB=-2914.77;TI=NM_001369;GI=DNAH5;FC=Silent GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:195,199:394:99:4631,0,4452:60:99:0.505 chr5 13864728 rs6554827 C A 3760.61 PASS BaseQRankSum=2.300;DP=365;Dels=0.00;FS=15.132;HRun=0;HaplotypeScore=24.6423;MQ=60;MQ0=0;MQRankSum=-0.095;QD=10.30;ReadPosRankSum=-2.326;SB=-1734.26;TI=NM_001369;GI=DNAH5;FC=Synonymous_R1458R;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:211,152:365:99:3761,0,4954:60:99:0.419 chr5 13865980 rs7703349 T C 3680.40 PASS BaseQRankSum=2.457;DP=313;Dels=0.00;FS=1.881;HRun=0;HaplotypeScore=9.5836;MQ=60;MQ0=0;MQRankSum=1.151;QD=11.76;ReadPosRankSum=-0.725;SB=-2385.32;TI=NM_001369;GI=DNAH5;FC=Synonymous_T1384T;EXON GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:154,159:313:99:3680,0,3513:60:99:0.508 chr5 13868103 . TA T 3785.47 R8 BaseQRankSum=1.577;DP=333;FS=1.354;HRun=9;HaplotypeScore=256.0566;MQ=60;MQ0=0;MQRankSum=-1.387;QD=11.37;ReadPosRankSum=2.046;SB=-1481.62;TI=NM_001369;GI=DNAH5;FC=Splicing GT:AD:DP:GQ:PL:MQ:GQX:VF 0/1:177,147:333:99:3785,0,4159:60:99:0.454 chr5 13882841 rs10057007 A G 1269.82 PASS BaseQRankSum=1.571;DP=232;Dels=0.00;FS=15.789;HRun=1;HaplotypeScore=5.5137;MQ=60;MQ0=0;MQRankSum=-0.392;QD=5.47;ReadPo